Chromosome Xq13.2 Microduplication Involving an X-Inactivation Gene in a Girl with Short Stature, Madelung Deformity, and von Willebrand Disease

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• 作者：Marcela M. Nur ; MD¹ ; ^{marcela.nur@ttuhsc.edu" class="auth_mail" title="E-mail the corresponding author} ; Merick Yamada ; MD¹ ; Vijay Tonk ; PhD² ; Golder N. Wilson ; MD ; PhD¹
• 关键词：Menorrhagia ; Short stature ; X chromosome aberrations ; Madelung deformity ; Pulmonic stenosis ; XIST gene ; Turner syndrome ; von Willebrand disease ; Connective tissue dysplasia
• 刊名：Journal of Pediatric and Adolescent Gynecology
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：29
• 期：2
• 页码：e39-e42
• 全文大小：560 K

文摘

The objective of the study was to describe a novel Xp13.2 chromosome microduplication in a child with some features of Turner syndrome but with menorrhagia after normal menarche. We used clinical evaluation and high resolution chromosome (microarray) analysis.

Case

A 15-year-old girl with typical (short stature, pulmonic stenosis, widely-spaced nipples) and atypical (Madelung deformity, menorrhagia) manifestations of Turner syndrome had a novel chromosome constitution with extra material (microduplication) at band Xq13.2 that contained the X-inactive-specific-transcript locus. She also had connective tissue laxity, suggestive of vessel fragility as a contributor to her menorrhagia as well as her diagnosis of von Willebrand disease. This first case of selective X-inactive-specific-transcript locus duplication suggests a role for gene repression in Turner syndrome and other disorders that affect ovarian function.

Conclusion

High-resolution chromosome (microarray) analysis, now a standard of care, will provide new insights into adolescents with abnormal growth and reproductive tract symptoms, especially when accompanied by congenital anomalies.